ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) (rs80358893)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113622 SCV000301087 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113622 SCV000327487 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000447889 SCV000537687 pathogenic Hereditary cancer-predisposing syndrome 2016-06-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502225 SCV000592068 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV000447889 SCV000661160 pathogenic Hereditary cancer-predisposing syndrome 2018-04-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000113622 SCV000786396 pathogenic Breast-ovarian cancer, familial 2 2018-04-24 criteria provided, single submitter clinical testing
Mendelics RCV000502225 SCV000838844 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763324 SCV000894001 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985568 SCV001133869 pathogenic not provided 2019-06-18 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113622 SCV000146903 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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